Canonical Allele Identifier: CA729701340

Gene: CFH

Linked Data

• dbSNP Id: rs1203369884
• gnomAD v3: 1-196726127-ATGCT-A
• gnomAD v4: 1-196726127-ATGCT-A
• MyVariant Identifiers: chr1:g.196695258_196695261del (hg19) ; chr1:g.196726128_196726131del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196726131_196726134del , CM000663.2:g.196726131_196726134del	GRCh38
NC_000001.10:g.196695261_196695264del , CM000663.1:g.196695261_196695264del	GRCh37
NC_000001.9:g.194961884_194961887del	NCBI36
NG_007259.1:g.79121_79124del , LRG_47:g.79121_79124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2140-339_2140-336del
ENST00000695969.1:c.1874-339_1874-336del	ENSP00000512296.1:n.1874-339_1874-336del
ENST00000695970.1:c.1874-339_1874-336del	ENSP00000512297.1:n.1874-339_1874-336del
ENST00000695971.1:c.1853-339_1853-336del	ENSP00000512298.1:n.1853-339_1853-336del
ENST00000695972.1:c.1874-339_1874-336del	ENSP00000512299.1:n.1874-339_1874-336del
ENST00000695973.1:c.*238-339_*238-336del	ENSP00000512300.1:n.*238-339_*238-336del
ENST00000695974.1:c.1697-339_1697-336del	ENSP00000512301.1:n.1697-339_1697-336del
ENST00000695975.1:c.1874-325_1874-322del	ENSP00000512302.1:n.1874-325_1874-322del
ENST00000695976.1:c.1685-339_1685-336del	ENSP00000512303.1:n.1685-339_1685-336del
ENST00000695981.1:c.1874-339_1874-336del	ENSP00000512306.1:n.1874-339_1874-336del
ENST00000695983.1:c.1874-339_1874-336del	ENSP00000512308.1:n.1874-339_1874-336del
ENST00000695984.1:c.245-2215_245-2212del	ENSP00000512309.1:n.245-2215_245-2212del
ENST00000695986.1:c.*1525-339_*1525-336del	ENSP00000512311.1:n.*1525-339_*1525-336del
ENST00000696025.1:n.1958-339_1958-336del
ENST00000696026.1:c.*156-339_*156-336del	ENSP00000512335.1:n.*156-339_*156-336del
ENST00000696027.1:c.1874-339_1874-336del	ENSP00000512336.1:n.1874-339_1874-336del
ENST00000696028.1:c.1874-339_1874-336del	ENSP00000512337.1:n.1874-339_1874-336del
ENST00000696029.1:c.1874-339_1874-336del	ENSP00000512338.1:n.1874-339_1874-336del
ENST00000696031.1:c.*1392-339_*1392-336del	ENSP00000512340.1:n.*1392-339_*1392-336del
ENST00000696032.1:c.1874-339_1874-336del	ENSP00000512341.1:n.1874-339_1874-336del
ENST00000696033.1:c.1159+36517_1159+36520del	ENSP00000512342.1:n.1159+36517_1159+36520del
ENST00000367429.9:c.1874-339_1874-336del MANE Select	ENSP00000356399.4:n.1874-339_1874-336del
ENST00000367429.8:c.1874-339_1874-336del	ENSP00000356399.4:n.1874-339_1874-336del
ENST00000466229.5:n.3890-339_3890-336del
NM_000186.3:c.1874-339_1874-336del , LRG_47t1:c.1874-339_1874-336del	NP_000177.2:n.1874-339_1874-336del
XR_001737134.2:n.2060-339_2060-336del
NM_000186.4:c.1874-339_1874-336del MANE Select	NP_000177.2:n.1874-339_1874-336del